Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.Q112*
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TSC2

NM_000548.5:p.Q112*

Associated Papers

Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis Complex.

You Q et al.

Human Mutation, 2025

Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations.

Adib E et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021

Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).

Liu J et al.

Plos One, 2019

31856217 (PubMed )
Supplement: pone.0226400.s008.xlsx › Sheet1

The genomic landscape of tuberous sclerosis complex.

Martin KR et al.

Nature Communications, 2017

28643795 (PubMed )
Supplement: ncomms15816-s3.xlsx › Supp_Data_2
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."